Prenatal diagnosis of type A1 brachydactyly

Brachydactyly can occur as an isolated malformation or as parr of numerous syndromes. Prenatal assessment of brachydactyly may be especially helpful i n multiple anomaly syndromes associated with hand and/or finger anomalies. Tn isolated type Al brachydactyly, which is an autosomal dominant disorder, all middle phalanges of the fingers and toes are affected. We present a fe tus with type A1 brachydactyly inherited from the mother and grandmother.